Meet Our Team
Our team is comprised of clinicians, basic researchers, and trainees working together to better understand how genetics drive the biology of rare neurodevelopmental conditions including schizophrenia, epilepsy, autism spectrum disorder, and intellectual disability. By combining new sequencing techniques (Stessman Lab) with model organisms such as zebrafish (Kramer Lab) and rodents (Shibata Lab), we can better understand clinical pathology (Kolli) and explore new treatment options for patients.
Investigation of Carnitine Palmitoyltransderase II Deficiency and CPTII Function in Neurodevelopment
Figure 1. LCFA metabolism pathway. CPT1, located in the outer
mitochondrial membrane, catalyzes the transfer of acyl groups from
acyl-CoA to carnitine producing acylcarnitines and free coenzyme A
(CoA). Acylcarnitines traverse the outer membrane through a voltagedependent
anion channel to be transported by the carnitineacylcarnitine
translocase to the inner mitochondrial membrane. In the
inner mitochondrial membrane, CPTII converts the long-chain
acylcarnitine back to an acyl-CoA that is used for β-oxidation.
This project is funded by a Health Science Strategic Investment Fund Faculty Development Grant (Creighton University).